A12T (p.Ala12Thr) variant of GRN (Progranulin)
A12T (p.Ala12Thr) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- Ensembl rs2048347801
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.04
- CADD 16.50
- Population evidence available
- Structural context available